Perlman Syndrome – Definition
Perlman syndrome (OMIM #267000) is a rare, recessive macrosomia syndrome characterized by hydramnios, renal dysplasia, and characteristic facial dysmorphia.
Synonyms:
Nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor
Gene:
DIS3L2
Gene product:
DIS3L2
Function:
Role in the degradation of miRNA
Pattern of inheritance:
Autosomal recessive
Prevalence:
Extremely rare
Genotype-phenotype correlation
Unknown
Penetrance:
Unknown
Perlman Syndrome – Diagnosis
Genetic Diagnostics
The diagnosis of “Perlman syndrome” is made clinically and confirmed by the detection of a DIS3L2 mutation by gene analysis.
Differential Diagnoses
Clinical Presentation
Characteristic features are polyhydramnios, macrosomia, characteristic facial features, renal dysplasia, nephroblastomatosis, and multiple congenital anomalies. More than 50% of those affected die of complications during the neonatal period, such as kidney failure, hypoxia, and pulmonary hypoplasia. The kidneys exhibit nephroblastomatosis in 75% of the cases. A developmental delay is common, and most of those who survive develop nephroblastomas, often on both sides.
Special Features of Treatment
The treatment should be administered by a multidisciplinary team.
Diagnosis of Perlman Syndrome- What's Next?
Once diagnosed, it is recommended that a cancer predisposition specialist manage the patient. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. Some additional information, including links to support groups, is also included at the end of this page.
Diagnosis of Perlman Syndrome - What's Next?
Once diagnosed, it is recommended that a cancer predisposition specialist manage the patient. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. Some additional information, including links to support groups, is also included at the end of this page.
Recommendations for Early Detection in Your Patients
According to the latest AACR guidelines, the following screening tests are recommended for patients with Perlman syndrome:
- Physical examination every 6 months
- Wilms’ tumour: renal ultrasound every 3 months from birth to 7 years of age
- Hepatoblastoma: Abdominal ultrasound + AFP determination every 3 months from birth until the age of 3 years
